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Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

Karen A Sanders¹, Dimitar K Gavrilov^1,2, Devin Oglesbee^1,2

¹Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

International Journal of Neonatal Screening

|August 18, 2020

Summary

Newborn screening for lysosomal disorders can be improved with advanced analytical platforms and interpretive tools. The Collaborative Laboratory Integrated Reports (CLIR) software significantly enhances assay performance and reduces confirmatory testing needs.

Keywords:

Fabry disease Gaucher disease Pompe disease bioinformatics immunoassay microfluidics mucopolysaccharidosis type I newborn screening post-analytical interpretation tandem mass spectrometry

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Area of Science:

Biochemistry
Genetics
Public Health

Background:

Newborn screening for lysosomal disorders is expanding globally using multiplexed enzyme assays.
Various analytical approaches, including tandem mass spectrometry, digital microfluidics, and immunocapture, are employed.
Investigating performance variability across these high-throughput screening assays is crucial.

Purpose of the Study:

To compare the performance of three high-throughput screening assays for four lysosomal disorders.
To evaluate the impact of post-analytical interpretive tools (CLIR) on assay performance.
To assess the effectiveness of confirmatory testing in improving screening accuracy.

Main Methods:

Prospective comparative effectiveness study of three multiplexed assays using nearly 100,000 newborn dried blood spot specimens.
Simultaneous screening for Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease.
Utilized 2nd tier enzyme assays, molecular genetic testing, and the CLIR software for interpretation.

Main Results:

All three analytical platforms demonstrated high sensitivity for lysosomal disorder screening.
The CLIR software significantly improved assay performance, reducing 2nd tier testing by 66%–95%.
Disease-specific biochemical 2nd tier tests maximized positive predictive values and minimized false positives.

Conclusions:

High-throughput screening assays for lysosomal disorders are effective.
Post-analytical interpretive tools like CLIR substantially enhance screening efficiency and accuracy.
Integrated testing strategies, including confirmatory assays, are essential for reliable newborn screening.